ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.2207C>T (p.Ala736Val) (rs587780617)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000122832 SCV000799954 uncertain significance Ataxia-telangiectasia syndrome 2018-05-14 criteria provided, single submitter clinical testing
Color RCV000777661 SCV000913557 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000777661 SCV001175474 uncertain significance Hereditary cancer-predisposing syndrome 2019-12-04 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV000122832 SCV000166089 uncertain significance Ataxia-telangiectasia syndrome 2014-06-11 no assertion criteria provided clinical testing The interpretation for this sequence variant was made by Invitae based on the ACMG guidelines.

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